Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology: Proceedings of the 2nd World Conference

1. Congenital Adrenal Hyperplasia Owing to 17α-Hydroxylase/17,20 Lyase and P450 Oxidoreductase Deficiencies
Christa E. Flück

2. Congenital Adrenal Hyperplasia Owing to 11β-Hydroxylase Deficiency
Perrin C. White

3. 46,XY DSD due to 17β-HSD3 Deficiency and 5α-Reductase Type 2 Deficiency
Marlene Inacio, Maria Helena P. Sircili, Vinicius N. Brito, Sorahia Domenice, Ari Alves Oliveira-Junior, Ivo J.P. Arnhold, Francisco D. Tibor, Elaine M.F. Costa, Berenice B. Mendonca

4. Studies of a Cohort of 46,XY with DSD Including Steroid Biosynthesis Deficiencies
Yves Morel, Ingrid Plotton, Delphine Mallet, Marc Nicolino, Anne-Marie Bertrand, Michel David, Claire Nihoul-Fekete, Pierre Chatelain

5. Aromatase Deficiency and Its Consequences
Melvin M. Grumbach

6. Gonadotropin-Regulated Testicular Helicase (GRTH/DDX25): A Master Post-transcriptional Regulator of Spermatogenesis
Maria L. Dufau, Hisashi Sato, Ravi Gutti, Chon-Hwa Tsai-Morris

7. Long Range Outcome of Prenatal Treatment
Maria I. New, Alan A. Parsa

8. Novel Non-invasive Prenatal Diagnosis as Related to Congenital Adrenal Hyperplasia
Joe Leigh Simpson, Farideh Bischoff

9. Medical Treatment of Classic and Nonclassic Congenital Adrenal Hyperplasia
Phyllis W. Speiser

10. Apparent Mineralocorticoid Excess – Update
Saroj Nimkarn

11. Clitoroplasty in Congenital Adrenal Hyperplasia: Description of Technique
Dix P. Poppas

12. Genitoplasty/Vaginoplasty
Richard C. Rink

13. Insights into the Aetiology of Ovotesticular DSD from Studies of Mouse Ovotestes
Peter Koopman, Dagmar Wilhelm

14. 46,XY Disorders of Sex Development (46,XY DSD) due to Androgen Receptor Defects: Androgen Insensitivity Syndrome
Ivo J.P. Arnhold, Karla Melo, Elaine M.F. Costa, Debora Danilovic, Marlene Inacio, Sorahia Domenice, Berenice B. Mendonca

15. Androgen Receptor Mutations Associated with Androgen Insensitivity Syndrome: A High Content Analysis Approach Leading to Personalized Medicine
Adam T. Szafran, Huiying Sun, Sean Hartig, Yuqing Shen, Sanjay N. Mediwala, Jennifer Bell, Michael J. McPhaul, Michael A. Mancini, Marco Marcelli

16. Phenotypic Variation of SF1 Gene Mutations
Pascal Philibert, Françoise Paris, Françoise Audran, Nicolas Kalfa, Michel Polak, Elisabeth Thibaud, Graziella Pinto, Muriel Houang, Delphine Zenaty, Juliane Leger, Jean-Christophe Mas, Catherine Pienkowski, Silvia Einaudi, Durval Damiani, Svetlana Ten, Sunil Sinha, Francis Poulat, Charles Sultan

17. Transsexualism (“Gender Identity Disorder”) – A CNS-Limited Form of Intersexuality?
Heino F.L. Meyer-Bahlburg

18. Biology and Genetics of Anti-Müllerian Hormone
Nathalie Josso

19. Genetic Mechanisms Underlying 46,XY DSD with Gonadal Dysgenesis
Louisa Ludbrook, Vincent R. Harley

20. Genetic Disorders of Sex Differentiation
Ken McElreavey, Anu Bashamboo

21. The Clinical Spectrum and Treatment of Ovotesticular Disorder of Sexual Development
Rinus Wiersma

22. The Genetics of Ovotesticular Disorders of Sex Development
Eric Vilain

23. Growth Hormone Treatment in Children with Congenital Adrenal Hyperplasia
Madeleine D. Harbison, Karen Lin-Su, Maria I. New

24. Genetic Modifications of Corticosteroid Receptors in Hypertension
John W. Funder

25. Angiotensin AT2 Receptors: Control of Renal Sodium Excretion and Blood Pressure
Robert M. Carey

26. The Pituitary-Bone Axis
Mone Zaidi, Li Sun, Jameel Iqbal

27. Genetic Impact of Both Sex Hormones in Male-Typical Behaviors
Takahiro Matsumoto, Kazuki Inoue, Takashi Sato, Shigeaki Kato

28.
MAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized Female
Maíra Pontual Brandão, Elaine Maria Frade Costa, Maki Fukami, Mariza Gerdulo, Natalia P. Pereira, Sorahia Domenice, Tsutomu Ogata, Berenice B. Mendonca

29. Atypical Presentation and Novel StAR Protein Gene Mutation in a 46,XY Female with Lipoid Congenital Adrenal Hyperplasia
Oksana Lekarev, Yves Morel, Maria I. New

30. Patient-Centered Care: Caring for Families Affected by Disorders of Sex Development
Anthony J. Asciutto, Emily Haddad, Janet Green, David E. Sandberg

31. Assessing Health-Related Quality of Life in Disorders of Sex Development: Phase I – Item Generation
David E. Sandberg, Melissa D. Gardner, Barry A. Kogan, Mary Beth Grimley, Laura Cohen, Adrianne N. Alpern, Alexandra L. Quittner

32. Leydig Cell Hypoplasia due to Inactivating Luteinizing Hormone/Chorionic Gonadotropin Receptor Gene Mutation Presenting as a 46,XY DSD
Sunil K. Sinha, Amrit Bhangoo, Svetlana Ten, Joerg Gromoll

33. Inguinal Hernia in a Phenotypic Female Infant May Reveal a 46XY Sex Reversal, Supported by the Identification of a Novel SF1 Gene Mutation
Sunil K. Sinha, Pascal Philibert, Charles Sultan, Svetlana Ten

34. University of Michigan Disorders of Sex Development (DSD) Research and Quality Improvement Symposium
David E. Sandberg, Anthony J. Asciutto, Emily Haddad

35. The Challenge of Mistaken Sex Assignment in an 11-Year-Old with Virilizing CAH
Martha Taboada, Priscila Gagliardi

36. Report of Fertility in a Woman with a Predominantly 46,XY Karyotype in a Family with Multiple Disorders of Sexual Development
Miroslav Dumic, Maria I. New, Karen Lin-Su, Ken McElreavey, Natasha I. Leibel, Srecko Ciglar, Saroj Nimkarn, Giovanna Vinci, Jean Wilson, Ruzica Lasan

Keywords: Biomedicine, Human Genetics, Endocrinology, Reproductive Medicine